A novel de novo CNKSR2 intronic variant was shown by minigene assays to cause exon 16 skipping, supporting its ...
Re-analysis of 7,221 rare disease genomes shows outdated annotations in SpliceAI's precomputed scores can miss clinically ...
Customers on the frontline of rare disease and drug discovery research can easily access SpliceAI2 through Illumina's ...
Tempus xR RNA sequencing assay receives EU IVDR Class C certification, supporting continued clinical and biopharma access in ...
Newswise — Researchers from Chinese Academy of Medical Sciences and Peking Union Medical College, et al. have conducted a study entitled “High frequency of alternative splicing variants of the ...
In this biotech bi-weekly, we highlight a partnership that’s facilitating a global competition for startups applying AI to therapeutic discovery, before introducing an award supporting collaboration ...
In a new study, Chinese researchers have discovered the previously unrecognized role of alternative splicing of the DOC2A gene in schizophrenia. The research was conducted by scientists led by LI Ming ...
The list of tools includes SpliceA12, a new iteration of a genomic AI model designed to identify disease-relevant splice variants.
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